AI Article Synopsis
- Darier disease (DD) is a rare skin disorder inherited in an autosomal dominant manner, linked to mutations in the ATP2A2 gene, which is involved in both skin and brain function.
- Researchers screened 95 unrelated DD patients, discovering 66 potentially pathogenic mutations, out of which 45 are considered novel.
- The findings indicate a diverse range of mutations in ATP2A2, suggesting they may not be limited to specific families, which enhances our understanding of how DD develops.
Article Abstract
Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. Forty-nine (74%) are unique to an individual and 17 (26%) were found in more than one individual or overlap with previously identified variants. The results suggest that mutations in ATP2A2 may not be as family-specific as first thought. The spectrum of mutations identified will inform understanding of the pathogenesis of DD.
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